Canonical Allele Identifier: CA394390721

Gene: AMDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2520887A>G , CM000678.2:g.2520887A>G	GRCh38
NC_000016.9:g.2570888A>G , CM000678.1:g.2570888A>G	GRCh37
NC_000016.8:g.2510889A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001330449.2:c.202A>G MANE Select	NP_001317378.1:p.Ile68Val
ENST00000293971.11:c.202A>G MANE Select	ENSP00000293971.6:p.Ile68Val
NM_001145815.1:c.202A>G	NP_001139287.1:p.Ile68Val
NM_001145815.2:c.202A>G	NP_001139287.1:p.Ile68Val
NM_001330449.1:c.202A>G	NP_001317378.1:p.Ile68Val
NM_015944.3:c.202A>G	NP_057028.2:p.Ile68Val
NM_015944.4:c.202A>G	NP_057028.2:p.Ile68Val
ENST00000293971.10:c.202A>G	ENSP00000293971.6:p.Ile68Val
ENST00000302956.8:c.202A>G	ENSP00000307481.4:p.Ile68Val
ENST00000413459.7:c.202A>G	ENSP00000391596.3:p.Ile68Val
ENST00000563556.1:c.202A>G	ENSP00000456656.1:p.Ile68Val
ENST00000563633.5:c.202A>G	ENSP00000457021.1:p.Ile68Val
ENST00000565963.5:n.271A>G
ENST00000566706.5:c.202A>G	ENSP00000456898.1:p.Ile68Val
ENST00000567475.5:n.260A>G
ENST00000568263.5:c.-488-97A>G	ENSP00000457136.1:n.-488-97A>G
ENST00000569219.1:n.258A>G
ENST00000569317.1:c.80-97A>G	ENSP00000455561.1:n.80-97A>G
ENST00000569879.5:c.202A>G	ENSP00000457398.1:p.Ile68Val
ENST00000648227.1:c.202A>G	ENSP00000498048.1:p.Ile68Val
XM_017023263.2:c.202A>G	XP_016878752.1:p.Ile68Val
XM_017023264.2:c.202A>G	XP_016878753.1:p.Ile68Val
XM_017023265.2:c.202A>G	XP_016878754.1:p.Ile68Val
XM_017023266.2:c.-196A>G	XP_016878755.1:n.-196A>G
XM_017023267.2:c.-488-97A>G	XP_016878756.1:n.-488-97A>G